UNLABELLED: Diseases that cause hyperammonaemia usually appear during the neonatal period or during the first months of life as severe neurological metabolic distress. In some cases, as the one reported here, the age of onset and initial symptoms are non-specific and the episodes of acute metabolic encephalopathy may be attributed to encephalitis, poisoning or psychiatric problems. Our patient had N-acetyl glutamate synthetase deficiency due to a lack of activation by L-arginine. Treatment with N-carbamylglutamate was successful in maintaining normal ammonia levels. CONCLUSION: We emphasise the importance of measuring ammonia levels in patients with neurological or psychiatric symptoms as part of their diagnostic work-up.
UNLABELLED: Diseases that cause hyperammonaemia usually appear during the neonatal period or during the first months of life as severe neurological metabolic distress. In some cases, as the one reported here, the age of onset and initial symptoms are non-specific and the episodes of acute metabolic encephalopathy may be attributed to encephalitis, poisoning or psychiatric problems. Our patient had N-acetyl glutamate synthetase deficiency due to a lack of activation by L-arginine. Treatment with N-carbamylglutamate was successful in maintaining normal ammonia levels. CONCLUSION: We emphasise the importance of measuring ammonia levels in patients with neurological or psychiatric symptoms as part of their diagnostic work-up.
Authors: D Broere; W G van Gemert; C M Kneepkens; D M Neele; R A Manoliu; J A Rauwerda; M S van der Knaap Journal: Eur J Pediatr Date: 2000-12 Impact factor: 3.183
Authors: Johannes Häberle; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Martina Huemer; Daniela Karall; Diego Martinelli; Pablo Sanjurjo Crespo; René Santer; Aude Servais; Vassili Valayannopoulos; Martin Lindner; Vicente Rubio; Carlo Dionisi-Vici Journal: Orphanet J Rare Dis Date: 2012-05-29 Impact factor: 4.123